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GTR Home > Tests > Acid Sphingomyelinase Deficiency

Methodology

Methodology

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Biochemical Genetics
EEnzyme assay
Enzyme activity
Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3500xL capillary sequencing instrument

Test development

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Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased acid sphingomyelinase, Acid Sphingomyelinase Deficiency (ASMD), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Acid Sphingomyelinase Deficiency (ASMD): Decreased Acid Sphingomyelinase (ASM), 2022

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